USP45

ubiquitin specific peptidase 45

Ensembl:
ENSG00000123552
UniProt:
Q70EL2
OMIM:
618439
Synonyms:
MGC14793

Cilia effects upon perturbation of USP45

Ciliogenesis screen results (4 screens)

  • Kim2016: Not Reported
  • Wheway et al. 2015 (siRNA) [siRNA]: Ciliogenesis Defect (z=-2.51) PMID:26167766
  • Breslow et al. 2018 (CRISPR) [CRISPR]: No Significant Effect PMID:29459680
  • Roosing et al. 2015 (siRNA) [siRNA]: No effect PMID:26595381

Phenotypes

Mouse phenotype:
increased mean corpuscular hemoglobin concentration, increased mean corpuscular hemoglobin, increased monocyte cell number, increased eosinophil cell number, increased basophil cell number, decreased neutrophil cell number
Human ciliopathy phenotype:
Leber congenital amaurosis

Ciliopathy associations

  • Leber Congenital Amaurosis

Subcellular localization

cilia associated gene

Functional category

  • Ciliary assembly/disassembly
  • Signaling (Hedgehog, GPCRs, ion channels)

Function

Mutations in the USP45 gene cause Leber Congenital Amaurosis (PMID: 30573563).